All transcript variants in gene FANCB

Information The variants shown are described using the transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-39T>C r.(=) p.(=) g.14883671A>G - FANCB_000030 - - - - Despoina Kalfakakou
./. - c.-37T>A r.(=) p.(=) g.14883669A>T - FANCB_000010 - - - - Despoina Kalfakakou
./. - c.69T>C r.(=) p.(=) g.14883564A>G - FANCB_000024 - - - - Despoina Kalfakakou
./. - c.69T>C r.(=) p.(=) g.14883564A>G - FANCB_000024 - - - - Despoina Kalfakakou
./. - c.77A>G r.(?) p.(Gln26Arg) g.14883556T>C - FANCB_000019 - - - - Despoina Kalfakakou
./. - c.127T>A r.(?) p.(Leu43Ile) g.14883506A>T - FANCB_000012 - - - - Despoina Kalfakakou
./. - c.330A>C r.(=) p.(=) g.14883303T>G - FANCB_000009 - - - - Despoina Kalfakakou
./. - c.330A>C r.(=) p.(=) g.14883303T>G - FANCB_000009 - - - - Despoina Kalfakakou
./. - c.392A>G r.(?) p.(Lys131Arg) g.14883241T>C - FANCB_000029 - - - - Despoina Kalfakakou
./. - c.433A>G r.(?) p.(Arg145Gly) g.14883200T>C - FANCB_000006 - - - - Despoina Kalfakakou
./. - c.447A>T r.(=) p.(=) g.14883186T>A - FANCB_000026 - - - - Despoina Kalfakakou
./. - c.554G>T r.(?) p.(Gly185Val) g.14883079C>A - FANCB_000023 - - - - Despoina Kalfakakou
./. - c.554G>T r.(?) p.(Gly185Val) g.14883079C>A - FANCB_000023 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Glu195Gly) g.14883049T>C - FANCB_000020 - - - - Despoina Kalfakakou
./. - c.952-38del r.(=) p.(=) g.14877494del - FANCB_000008 - - - - Despoina Kalfakakou
./. - c.952-38del r.(=) p.(=) g.14877494del - FANCB_000008 - - - - Despoina Kalfakakou
./. - c.972A>T r.(?) p.(Lys324Asn) g.14877436T>A - FANCB_000028 - - - - Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) g.14877419A>G - FANCB_000005 - - - - Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) g.14877419A>G - FANCB_000005 - - - - Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) g.14877419A>G - FANCB_000005 - - - - Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) g.14877419A>G - FANCB_000005 - - - - Despoina Kalfakakou
./. - c.1104+34A>G r.(=) p.(=) g.14877270T>C - FANCB_000011 - - - - Despoina Kalfakakou
./. - c.1104+35G>T r.(=) p.(=) g.14877269C>A - FANCB_000004 - - - - Despoina Kalfakakou
./. - c.1104+35G>T r.(=) p.(=) g.14877269C>A - FANCB_000004 - - - - Despoina Kalfakakou
./. - c.1140T>A r.(?) p.(Phe380Leu) g.14876041A>T - FANCB_000017 - - - - Despoina Kalfakakou
./. - c.1140T>A r.(?) p.(Phe380Leu) g.14876041A>T - FANCB_000017 - - - - Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) g.14875963_14875965del - FANCB_000016 - - - - Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) g.14875963_14875965del - FANCB_000016 - - - - Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) g.14875963_14875965del - FANCB_000016 - - - - Despoina Kalfakakou
./. - c.1197+41A>T r.(=) p.(=) g.14875943T>A - FANCB_000013 - - - - Despoina Kalfakakou
./. - c.1197+41A>T r.(=) p.(=) g.14875943T>A - FANCB_000013 - - - - Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) g.14868839G>A - FANCB_000003 - - - - Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) g.14868839G>A - FANCB_000003 - - - - Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) g.14868839G>A - FANCB_000003 - - - - Despoina Kalfakakou
./. - c.1505A>G r.(?) p.(Asn502Ser) g.14863400T>C - FANCB_000025 - - - - Despoina Kalfakakou
./. - c.1743A>G r.(=) p.(=) g.14863162T>C - FANCB_000027 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G - FANCB_000015 - - - - Despoina Kalfakakou
./. - c.1817G>A r.(?) p.(Ser606Asn) g.14863088C>T - FANCB_000002 - - - - Despoina Kalfakakou
./. - c.1817G>A r.(?) p.(Ser606Asn) g.14863088C>T - FANCB_000002 - - - - Despoina Kalfakakou
./. - c.1928-19C>T r.(=) p.(=) g.14862881G>A - FANCB_000007 - - - - Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) g.14861834T>C - FANCB_000022 - - - - Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) g.14861834T>C - FANCB_000022 - - - - Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) g.14861834T>C - FANCB_000022 - - - - Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) g.14861834T>C - FANCB_000022 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C - FANCB_000014 - - - - Despoina Kalfakakou
./. - c.2477C>T r.(?) p.(Thr826Met) g.14861792G>A - FANCB_000021 - - - - Despoina Kalfakakou
./. - c.2539T>C r.(=) p.(=) g.14861730A>G - FANCB_000018 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) g.14861656A>G - FANCB_000001 - - - - Despoina Kalfakakou
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